Therfield mum's joy as drug which could change daughter's life gets green light
PUBLISHED: 15:26 23 May 2019
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The mum of a Therfield girl with spinal muscular atrophy type 2 has said she is "overjoyed" that after a two-year battle, the drug which will ease symptoms of her daughter's disease has been approved for use on the NHS.
Julie Copeland has been 10-year-old Courtney's full-time carer since she was diagnosed with the rare genetic neuromuscular disorder at 18 months.
Julie - as well as many other families affected by SMA - has been fighting for Courtney to receive Spinraza, which is used to ease symptoms for sufferers in several countries, including Scotland. But, until the decision on Wednesday last week, it was not recommended by National Institute for Health and Care Excellence for use in England.
After hearing the good news about the use of the drug, also called nusinersen, Julie told the Crow: "I'm overjoyed! I can't believe it. it's been a two-year fight for everyone to get it and when we got the news it was absolutely fantastic.
"I woke up to the news on Facebook from the SMA community and went to Courtney and had a big smile. "She's very happy because it will make her stronger - and then she might be able to do things like open a bag of crisps, or play with water guns in the summer.
"It's a big weight off my shoulders, so much so that I burst into tears - my sister and my mum did too - and she's 74.
"My Facebook page is filled with comments on how wonderful it is for the SMA community and for me - we are looking forward to getting together in Harlow in August for a big meet up.
"Suddenly things are happening for us. It seems this year is our year, and we're over the moon."
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The recommendation comes following agreement of a deal between the company, Biogen, and NHS England.
Spinraza is the first treatment that targets the underlying cause of SMA, which affects the nerves in the spinal cord controlling movement. This causes muscle weakness, progressive loss of movement, and difficulty breathing and swallowing.
There are currently no active treatments targeting the underlying cause of SMA so the condition is managed through supportive care which aims to minimise the impact of disability, address complications and improve quality of life.
It is estimated there are there are between 600 and 1,200 children and adults in the UK living with SMA.
Meindert Boysen, director of the Centre for Health Technology Evaluation at NICE, said: "We are very pleased that we can now recommend nusinersen for people with SMA.
"The committee has recognised that nusinersen is a promising treatment that has been shown to improve a range of outcomes important to patients. But it also recognised that there are significant uncertainties, particularly around its long-term benefits.
"This announcement shows that, where companies show appropriate flexibility, it is possible to find a way to provide important treatments to patients in a way that is cost effective for the NHS and taxpayers."
Simon Stevens, NHS England chief executive, said: "This promising treatment has the potential to be life changing for children and their families.
"The NHS has now reached one of the most comprehensive deals in the world, which allows us to assess real-world evidence of its long-term benefits."